Disease Background

Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HSAN), is the most common CMTR disease with a prevalence of 1 in 2,500 individuals worldwide.

The CMTR umbrella includes all other inherited neuropathies and multisystem disorders with neuropathy:

• • acute intermittent porphyria
  • cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS)
  • hereditary motor neuropathy (HMN)
  • hereditary sensory neuropathy (HSN)
  • hereditary sensory and autonomic neuropathy (HSAN)
  • hereditary spastic paraplegia/paraparesis with neuropathy
  • hereditary transthyretin polyneuropathy (hATTR)
  • lysosomal storage disorders (i.e. Fabry disease, Krabbe disease, Sandhoff disease)
  • mitochondrial neuropathies (i.e. MNGIE, SANDO, MCARNE)
  • peroxisomal disorders (i.e. Refsum disease, adrenoleukodystrophy)
  • spinocerebellar ataxias with neuropathy

Please reference the diagram below for common CMTR peripheral nerve symptoms and disease mechanisms and utilize these additional resources.

Diagnosis, Management and Treatment

Please access disease-specific symptoms and diagnosis information through the resources below. Standard diagnostic procedures likely include medical history questionnaire, neurological examination, electrodiagnostic studies (nerve conduction and electromyography) and genetic testing.

Hereditary transthyretin polyneuropathy (hATTR) is currently the only CMTR disease with FDA-approved treatments. All other CMTR diseases are managed with supportive care. Access disease-specific medical management information through the resources below.

Clinical Trials

Please use the following resources to find completed and ongoing disease-specific clinical trials. Access additional clinical trial information on several patient advocacy group websites listed below.

Patient Advocacy and Research Groups

Please access Patient Advocacy and Research Groups for CMTR diseases to learn about support and resources available for patients and research being funded by these organizations. Please reach out with additional groups that should be included. Contact information may be found on the CMTR Board of Directors page.